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1
المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test -
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المؤلفون: Herta Zellner, Melanie A. Manning, Holger Prokisch, Natalia Gomez-Ospina, Georg F. Hoffmann, Johannes A. Mayr, Mirjana Gusic, Lucia Laugwitz, Susanne Morlot, Claudia Krahn-Peper, Thomas Meitinger, Andreas Wroblewski, Michaela Röblitz, Elisabeth Graf, Riccardo Berutti, Eva Bültmann, Tim M. Strom, Dorota Piekutowska-Abramczuk, Penelope E. Bonnen, René G. Feichtinger, Edda Haberlandt, Christine Makowski, Manting Xu, Ulrich A. Schatz, Anibh M. Das, Steffen Syrbe, Katharina Danhauser, Daniela Karall, Anna Kostera-Pruszczyk, Hans Hartmann, Tobias B. Haack, Rafał Płoski, Fang Fang, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy
المصدر: The American Journal of Human Genetics. 103:817-825
مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Glycoside Hydrolases, Developmental Disabilities, Biology, Nervous System Malformations, 03 medical and health sciences, ADP-Ribosylation, 0302 clinical medicine, PARP1, Report, Genetics, medicine, Humans, Exome, Viability assay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Adenosine Diphosphate Ribose, Messenger RNA, Neurodegeneration, Infant, Neurodegenerative Diseases, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Cancer research, Female, NAD+ kinase, medicine.symptom, Protein Processing, Post-Translational, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69de748641d7361a0dc57201bc80a18cTest
https://doi.org/10.1016/j.ajhg.2018.10.005Test -
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المؤلفون: Karolina Bukowska-Strakova, Jacek Stępniewski, Urszula Glowniak, Magdalena Madej, Alicja Jozkowicz, Agnieszka Loboda, Krzysztof Szade, Iwona Bronisz-Budzyńska, Anna Kostera-Pruszczyk, Maciej Ciesla, Anna Kamińska, Olga Mucha, Kalina Andrysiak, Mateusz Jez, Paulina Podkalicka, Katarzyna Pietraszek-Gremplewicz, Magdalena Kozakowska, Jozef Dulak
المصدر: Antioxidants & Redox Signaling. 29:128-148
مصطلحات موضوعية: Male, 0301 basic medicine, muscle satellite cells, HMOX1, Physiology, Duchenne muscular dystrophy, Clinical Biochemistry, Biochemistry, Dystrophin, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Muscular dystrophy, Child, Heme, Cells, Cultured, General Environmental Science, Mice, Knockout, microRNA, biology, heme oxygenase-1, Cell Differentiation, Phenotype, medicine.anatomical_structure, Child, Preschool, Disease Progression, medicine.symptom, muscular dystrophy, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Satellite Cells, Skeletal Muscle, Inflammation, 03 medical and health sciences, Internal medicine, Animals, Humans, skeletal muscle, Muscle, Skeletal, Molecular Biology, business.industry, Membrane Proteins, Skeletal muscle, Cell Biology, medicine.disease, Muscular Dystrophy, Duchenne, Heme oxygenase, MicroRNAs, 030104 developmental biology, Endocrinology, chemistry, inflammation, Mice, Inbred mdx, biology.protein, General Earth and Planetary Sciences, business, Heme Oxygenase-1, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969f7244b0d6cd27cd2f89b7081dd63dTest
https://doi.org/10.1089/ars.2017.7435Test -
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المؤلفون: Wioletta Krysa, Anna Sulek, Anna Kamińska, Monika Nojszewska, Malgorzata Gawel, Andrzej Seroka, Janusz Sierdziński, Anna Lusakowska, Anna Kostera-Pruszczyk, Ewelina Elert-Dobkowska
المصدر: Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology. 49
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Needle emg, Adolescent, Myotonia Congenita, Myotonic discharges, Biophysics, Neuroscience (miscellaneous), Genes, Recessive, Biceps, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Child, Muscle, Skeletal, Genes, Dominant, CLCN1, biology, business.industry, Myotonia congenita, Electromyography, 030229 sport sciences, Middle Aged, medicine.disease, Evoked Potentials, Motor, Motor unit, Child, Preschool, Significant positive correlation, Mutation, biology.protein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a983a6f54832569373e5a885ca64b7Test
https://pubmed.ncbi.nlm.nih.gov/31610484Test -
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المؤلفون: Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn
المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Candidate gene, Adolescent, lcsh:Medicine, Biology, Compound heterozygosity, Bioinformatics, Sequence variants, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Glycogen storage disease type II, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Muscle Weakness, Glycogen Storage Disease Type II, Genetic heterogeneity, Research, lcsh:R, Whole exome sequencing, Genetic Variation, Muscle weakness, Pompe disease, alpha-Glucosidases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a5bb4bbf80ab971616404ecc7b297cTest
http://link.springer.com/article/10.1186/s13023-017-0722-1Test -
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المؤلفون: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Population, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Allele, Child, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Infant, Newborn, Infant, Diffuse Cerebral Sclerosis of Schilder, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, 030104 developmental biology, Amino Acid Substitution, Child, Preschool, Cohort, Molecular Medicine, Female, Poland, medicine.symptom, Age of onset, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2Test
https://ruj.uj.edu.pl/xmlui/handle/item/112814Test -
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المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Nils Erik Gilhus, Marta Lipowska, Małgorzata Dutkiewicz, Anna Kostera-Pruszczyk, Justyna Kubiszewska, Beata Szyluk, Piotr Szczudlik, Barbara Ryniewicz
المصدر: Acta Neurologica Scandinavica. 130:229-233
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, medicine.medical_treatment, Enzyme-Linked Immunosorbent Assay, Late onset, Autoantigens, Gastroenterology, Young Adult, Internal medicine, Myasthenia Gravis, medicine, Humans, Connectin, Age of Onset, Child, Aged, Autoantibodies, Aged, 80 and over, Autoimmune disease, biology, business.industry, Immunosuppression, Histology, General Medicine, Middle Aged, medicine.disease, Myasthenia gravis, Neurology, Cohort, Immunology, biology.protein, Female, Neurology (clinical), Antibody, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8291b6fd292697be4a23196a8fdcf905Test
https://doi.org/10.1111/ane.12271Test -
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المؤلفون: A. Vaknin, Dragana Lavrnic, Eleni Zamba-Papanicolaou, Chantal M. E. Tallaksen, M. DeBaets, M. Frenkian Cuvelier, Stojan Peric, Talma Brenner, John Tzartos, Vasiliki Zouvelou, Beata Szyluk, Carlo Antozzi, Hacer Durmus, Piotr Szczudlik, Konstantinos Lazaridis, Francesca Andreetta, Paraskevi Zisimopoulou, T. Stojkovic, Socrates J. Tzartos, Angelina H. Maniaol, Sonia Berrih-Aknin, Renato Mantegazza, Anna Kostera-Pruszczyk, Feza Deymeer, Mario Losen, Pilar Martinez-Martinez, Panagiota Evangelakou, Kleopas A. Kleopa, Tassos C. Kyriakides, Amelia Evoli, Güher Saruhan-Direskeneli, Ivana Basta
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Autoimmunity; Vol 52
Journal of Autoimmunity, 52, 139-145. Elsevier Science
Journal of Autoimmunityمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, International Cooperation, Immunology, LRP4, Thymus Gland, Autoantibodies Cell based assay, Young Adult, Sex Factors, Epidemiology, Diagnosis, Humans, Immunology and Allergy, Medicine, Receptors, Cholinergic, Serologic Tests, Age of Onset, Child, Myasthenia gravis, LDL-Receptor Related Proteins, Aged, Autoantibodies, Acetylcholine receptor, Hyperplasia, biology, business.industry, Infant, Newborn, Autoantibody, Infant, Receptor Protein-Tyrosine Kinases, Middle Aged, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Immunoglobulin G, Disease Progression, biology.protein, Female, Therapy, Antibody, business, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc6fee35d6be5e7c6c4359d7e4c028eTest
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المؤلفون: Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart
المصدر: Neuromuscular Disorders. 16:759-762
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Proteins, Biology, Cataract, Desmin, LMNA, Myofibrils, medicine, Humans, Myotilin, Connectin, Child, Muscle, Skeletal, Selenoproteins, Myopathy, Genetics (clinical), Hyaline, Genetics, Microfilament Proteins, alpha-Crystallin B Chain, Skeletal muscle, Lamin Type A, musculoskeletal system, medicine.disease, Congenital myopathy, Cytoskeletal Proteins, Polydactyly, Phenotype, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Syndactyly, sense organs, Neurology (clinical), medicine.symptom, Dystrophin, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51Test
https://doi.org/10.1016/j.nmd.2006.07.025Test